TY  - GEN
AU  - Lin,Yi-Jie
AU  - Ho,Che-Sheng
AU  - Hsu,Chyong-Hsin
AU  - Lin,Ju-Li
AU  - Chuang,Chih-Kuang
AU  - Tsai,Jen-Daw
AU  - Chiu,Nan-Chang
AU  - Lin,Hsiang-Yu
AU  - Lin,Shuan-Pei
TI  - A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease
SN  - 2212-1692
PY  - 2017///1004
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Cation Transport Proteins
KW  - Copper-Transporting ATPases
KW  - Histidine
KW  - analogs & derivatives
KW  - Humans
KW  - Infant
KW  - Male
KW  - Menkes Kinky Hair Syndrome
KW  - diagnosis
KW  - Organometallic Compounds
KW  - therapeutic use
KW  - Point Mutation
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.pedneo.2014.05.008
ER  -